Canonical Allele Identifier: CA404336785

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 1305943
• ClinVar RCV Id: RCV001766896 ; RCV001810309
• dbSNP Id: rs1057519429
• gnomAD v2: 19-13346480-C-T
• gnomAD v3: 19-13235666-C-T
• gnomAD v4: 19-13235666-C-T
• COSMIC: COSM4668329 ; COSM4668330 ; COSM4668331 ; COSM4668332
• MyVariant Identifiers: chr19:g.13346480C>T (hg19) ; chr19:g.13235666C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235666C>T , CM000681.2:g.13235666C>T	GRCh38
NC_000019.9:g.13346480C>T , CM000681.1:g.13346480C>T	GRCh37
NC_000019.8:g.13207480C>T	NCBI36
NG_011569.1:g.275795G>A , LRG_7:g.275795G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5015G>A MANE Select	ENSP00000353362.5:p.Arg1672His
ENST00000573710.7:c.5021G>A	ENSP00000460092.3:p.Arg1674His
ENST00000573891.6:c.434G>A
ENST00000574822.6:n.239G>A
ENST00000585802.6:c.176G>A	ENSP00000465598.2:p.Arg59His
ENST00000593267.2:n.220G>A
ENST00000635727.1:c.5018G>A	ENSP00000490001.1:p.Arg1673His
ENST00000635742.1:n.1004G>A
ENST00000635895.1:c.5018G>A	ENSP00000490323.1:p.Arg1673His
ENST00000636012.1:c.5018G>A	ENSP00000490223.1:p.Arg1673His
ENST00000636058.1:c.330G>A
ENST00000636389.1:c.5018G>A	ENSP00000489992.1:p.Arg1673His
ENST00000636473.1:c.176G>A	ENSP00000490173.1:p.Arg59His
ENST00000636549.1:c.5024G>A	ENSP00000490578.1:p.Arg1675His
ENST00000637276.1:c.5018G>A	ENSP00000489777.1:p.Arg1673His
ENST00000637297.1:c.311G>A	ENSP00000489692.1:p.Arg104His
ENST00000637432.1:c.5033G>A	ENSP00000490617.1:p.Arg1678His
ENST00000637736.1:c.4877G>A	ENSP00000489861.1:p.Arg1626His
ENST00000637769.1:c.5018G>A	ENSP00000489778.1:p.Arg1673His
ENST00000637777.1:c.275G>A
ENST00000637809.1:n.408G>A
ENST00000637819.1:c.419G>A	ENSP00000490686.1:p.Arg140His
ENST00000637832.1:n.9G>A
ENST00000637927.1:c.5021G>A	ENSP00000489715.1:p.Arg1674His
ENST00000638009.2:c.5018G>A	ENSP00000489913.1:p.Arg1673His
ENST00000638029.1:c.5033G>A	ENSP00000489829.1:p.Arg1678His
ENST00000664864.1:c.5219G>A	ENSP00000499449.1:p.Arg1740His
ENST00000360228.9:c.5015G>A	ENSP00000353362.5:p.Arg1672His
ENST00000573710.6:c.5018G>A	ENSP00000460092.2:p.Arg1673His
ENST00000573891.5:c.434G>A
ENST00000574822.5:n.239G>A
ENST00000585802.5:c.1073G>A	ENSP00000465598.1:p.Arg358His
ENST00000587525.5:c.476G>A	ENSP00000467729.1:p.Arg159His
ENST00000593267.1:n.220G>A
ENST00000614285.4:c.5033G>A	ENSP00000479983.1:p.Arg1678His
NM_000068.3:c.5033G>A	NP_000059.3:p.Arg1678His
NM_001127221.1:c.5018G>A , LRG_7t1:c.5018G>A	NP_001120693.1:p.Arg1673His
NM_001127222.1:c.5015G>A	NP_001120694.1:p.Arg1672His
NM_001174080.1:c.5024G>A	NP_001167551.1:p.Arg1675His
NM_023035.2:c.5033G>A	NP_075461.2:p.Arg1678His
NM_000068.4:c.5033G>A	NP_000059.3:p.Arg1678His
NM_001127222.2:c.5015G>A MANE Select	NP_001120694.1:p.Arg1672His
NM_001174080.2:c.5024G>A	NP_001167551.1:p.Arg1675His
NM_023035.3:c.5033G>A	NP_075461.2:p.Arg1678His
NM_001127221.2:c.5018G>A	NP_001120693.1:p.Arg1673His